On Thursday, February the 20th 2025,  representatives of the LNS the pleasure of welcoming several representatives from Alan Maladies Rares Luxembourg.

This visit was an opportunity to discuss progress in the diagnosis and management of rare diseases and to introduce them to our medical biology laboratory as well as the National Center of Genetics (NCG).

Medical Biology & Neonatal Screening

Our Medical Biology Department plays a key role in early detection. Through the neonatal screening program, six diseases can be identified at birth from a simple blood sample, with the addition in 2024 of spinal muscular atrophy (SMA), a hereditary genetic disease. The program will expand further in 2025 and 2026. The department is also responsible for diagnosing and monitoring several inborn errors of metabolism, most of which are rare diseases that can manifest within the first few weeks of life.

Genetics Center & Rare Diseases

The ALAN representatives also had the opportunity to discover our National Center of Genetics, where our teams work on chromosome analysis and the identification of genetic mutations—essential steps in diagnosing and supporting patients affected by rare diseases.

A big thank you to Daniel Theisen (ALAN Director), Sandra Alves (Psychosocial support service of ALAN), and Thierry Defense (National Rare Disease Alliance Coordinator) for their visit and this fruitful exchange.

We are proud to contribute, alongside ALAN and many healthcare professionals, to a better understanding and detection of rare diseases.

From left to right, on the picture : Clément KEBBABI (Medical Biology, LNS), Marizela Kulisic, PhD (NCG, LNS), Dr Patricia Borde (Medical Biology, LNS), Daniel Theisen (ALAN), Dr Daniel Stieber (NCG, LNS), Thierry Defense (ALAN), Sandra Alves (ALAN)